Table 1.
Genes associated with autism spectrum disorder (ASD) for which a Knock-Out model is provided. The column variants are “AutDB variants”, including the variants in the protein-coding region that is AutDB-related and with a familial origin.
| Human Gene | Locus | Aut DB Variants | Associated Disease | Model |
|---|---|---|---|---|
| FMR1 | Xq27.3 | p.Lys547Glu | Fragile X syndrome | FMR1-KO |
| p.Glu360Gly | ||||
| p.Ser27Ter | ||||
| p.Arg138Gln | ||||
| p.Ile580fsTer9 | ||||
| p.Gly266Glu | ||||
| p.Met140IlefsTer3 | ||||
| MECP2 | Xq28 | p.Glu406Ter | Rett syndrome | MECP2-KO |
| p.Ala140Val | ||||
| p.Arg167Trp | ||||
| p.Pro388_Pro467del | ||||
| p.Pro322Ser | ||||
| p.Ala214Gly | ||||
| p.Thr240Ser | ||||
| p.Ala370Thr | ||||
| p.Pro199Arg | ||||
| p.Glu483Ter | ||||
| p.Glu318Asp | ||||
| p.Val320His | ||||
| p.Arg354_Val412delins41 | ||||
| p.Glu495Ter | ||||
| p.Gly185Val | ||||
| p.Arg167Trp | ||||
| p.Arg309Trp | ||||
| p.Ala140Val | ||||
| p.Pro398fsTer | ||||
| p.Glu483Ter | ||||
| p.Glu495Ter | ||||
| p.Arg190His | ||||
| p.Arg133Cys | ||||
| p.Arg306Cys | ||||
| p.Arg133Cys | ||||
| p.Pro389Ter | ||||
| p.Arg470His | ||||
| p.Asp147Glu | ||||
| p.Pro376Ser | ||||
| p.Gly249fs | ||||
| p.Val380CysfsTer27 | ||||
| p.Pro403Arg | ||||
| p.Glu406Lys | ||||
| NLGN3 | Xq13.1 | p.Arg451Cys | NLGN3-KO | |
| p.Thr632Ala | ||||
| p.Val321Ala | ||||
| p.Val306Met | ||||
| p.Trp463Ter | ||||
| p.Arg617Trp | ||||
| p.Thr429fs | ||||
| p.Thr449fs | ||||
| NLGN4X | Xp22.32–p22.31 | p.Lys378Arg | ||
| p.Gln329Ter | ||||
| p.Arg766Gln | ||||
| p.Gly84Arg | ||||
| p.Ala283Thr | ||||
| p.Gly99Ser | ||||
| p.Lys378Arg | ||||
| p.Val403Met | ||||
| p.Arg704Cys | ||||
| p.Glu418AspfsTer12 | ||||
| p.Gln274Ter | ||||
| TSC1 | 9q34.13 | p.His732Tyr | Tuberous sclerosis | |
| p.Lys587Arg | ||||
| p.Ser403Leu | ||||
| p.Thr360Asn | ||||
| p.Arg336Trp | ||||
| p.Thr360Asn | ||||
| p.Pro448Ser | ||||
| p.Ala186Thr | ||||
| p.Asn6Asp | ||||
| p.Glu190fs | ||||
| TSC2 | 16p13.3 | p.Lys533Gln | Tuberous sclerosis | |
| p.Ala678Thr | ||||
| p.Glu984Gln | ||||
| p.Ala1097Val | ||||
| p.Ser1698Arg | ||||
| p.Ile64Val | ||||
| p.His152Asp | ||||
| p.Lys533Gln | ||||
| p.Lys954Arg | ||||
| p.Glu984Gln | ||||
| p.Ala1429Ser | ||||
| p.Glu234fs | ||||
| p.Val1034Ile | ||||
| p.Asp647Asn | ||||
| p.Val296Met | ||||
| p.Leu361Val | ||||
| p.Arg622Trp | ||||
| RELN | 7q22.1 | p.Gly370Arg | ||
| p.Asn1159Lys | ||||
| p.Ser1719Leu | ||||
| p.Arg1742Gln | ||||
| p.Val1762Ile | ||||
| p.Arg2290His | ||||
| p.Thr2718Ala | ||||
| p.Gly1280Glu | ||||
| p.Arg255Trp | ||||
| p.Arg2292Cys | ||||
| p.Thr1904Met | ||||
| p.Arg1727Trp | ||||
| p.Pro1580Leu | ||||
| p.Pro3379Arg | ||||
| p.Ile3374Val | ||||
| p.Pro2245Arg | ||||
| p.Leu2057Val | ||||
| p.Arg822Gly | ||||
| p.Arg2242Ser | ||||
| p.Leu522Phe | ||||
| p.Arg3439Gln | ||||
| p.Val3426Ile | ||||
| p.Asn2535Lys | ||||
| p.Val2372Met | ||||
| p.Asp2309Asn | ||||
| p.Asp2309Asn | ||||
| p.Arg1742Gln | ||||
| p.Glu1410Lys | ||||
| p.Leu411Ile | ||||
| p.Val3426Ile | ||||
| p.Lys751Thr | ||||
| p.Tyr1183Cys | ||||
| p.Pro638Leu | ||||
| p.Ala3327Ser | ||||
| p.Pro638Leu | ||||
| p.Arg1727Gln | ||||
| p.Ser142Asn | ||||
| p.Ala3281GlnfsTer11 | ||||
| p.Gly1113Glu | ||||
| p.Tyr2154Cys | ||||
| p.Gly2802Arg | ||||
| p.Gly2783Cys | ||||
| p.His798Asn | ||||
| p.Pro844Leu | ||||
| p.Asp763Gly | ||||
| p.Pro672Leu | ||||
| p.Tyr723Cys | ||||
| p.Ser2513Cys | ||||
| p.Ala2545Val | ||||
| p.Trp1083fs | ||||
| p.Pro1340Leu | ||||
| p.Asp2309Asn | ||||
| p.Gln3313Arg | ||||
| EN2 | 7q36.3 | p.Pro142Arg | EN2-KO | |
| PTEN | 10q23.31 | p.Tyr178Ter | ||
| p.Asp22Glu | ||||
| p.Gln214Ter | ||||
| p.Met134Ile | ||||
| p.Arg130Ter | ||||
| p.Leu139Ter | ||||
| p.Arg173His | ||||
| p.Trp274Leu | ||||
| p.Met134Thr | ||||
| P.Leu182Ser | ||||
| p.Ile50Thr | ||||
| p.Val133Ile | ||||
| p.Lys164Asn | ||||
| p.Ser59Ter | ||||
| p.Arg233Ter | ||||
| p.Ser170Arg | ||||
| p.Gly136fs | ||||
| p.Arg154fs | ||||
| UBE3A | 15q11.2 | p.Ala201Thr | Angelman | |
| p.Ala178Thr | ||||
| p.Ala198Thr | ||||
| p.192_193del | ||||
| p.Arg506Cys | ||||
| p.Ala599fs |